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Article

Mendelian susceptibility to mycobacterial disease: recent discoveries.

Human genetics - 1 Jun 2020

Bustamante Jacinta

Abstract excerpt

Mendelian susceptibility to mycobacterial disease (MSMD) is caused by inborn errors of IFN-γ immunity. Affected patients are highly and selectively susceptible to weakly virulent mycobacteria, such as environmental mycobacteria and Bacillus Calmette-Guérin vaccines. Since 1996, disease-causing mutations have been reported in 15 genes, with allelic heterogeneity leading to 30 genetic disorders. Here, we briefly...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32025907
DOI: 10.1007/s00439-020-02120-y
PMCID: PMC7275902

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